Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA322253

Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 214413

ClinVar RCV Id: RCV000197788 RCV000493445

ClinVar Variation Id: 1691284

ClinVar RCV Id: RCV002254382 RCV003094170

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000134.2:p.Phe312Leu	CA322251 NM_000143.4:c.934T>C CA345438374 NM_000143.4:c.936T>G CA345438375 NM_000143.4:c.936T>A